PUM1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 12.5% | 1/8 |
| Female | 87.5% | 7/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 100.0% | 1/1 |
| < P3 : Short stature | 100.0% | 1/1 |
| Current Weight abnormalities | 100.0% | 1/1 |
| < P3 : Decreased body weight | 100.0% | 1/1 |
| Current Head circumference abnormalities | 0% | 0/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 8/8 |
| Ataxia | 75.0% | 6/8 |
| Progressive | 50.0% | 4/8 |
| Attention deficit hyperactivity disorder | 12.5% | 1/8 |
| Central hypotonia | 12.5% | 1/8 |
| Dysarthria | 12.5% | 1/8 |
| EEG with generalized epileptiform discharges | 12.5% | 1/8 |
| Epileptic encephalopathy | 12.5% | 1/8 |
| Generalized seizures | 12.5% | 1/8 |
| Global developmental delay | 12.5% | 1/8 |
| Hemiballismus | 12.5% | 1/8 |
| Hyperactivity | 12.5% | 1/8 |
| Increased intracranial pressure | 12.5% | 1/8 |
| Intellectual disability | 12.5% | 1/8 |
| Neonatal hypotonia | 12.5% | 1/8 |
| Spasticity | 12.5% | 1/8 |
| Stereotypical hand wringing | 12.5% | 1/8 |
| Behavioral problems | 12.5% | 1/8 |
| Attention deficit hyperactivity disorder | 12.5% | 1/8 |
| Brain abnormality | 87.5% | 7/8 |
| Cerebellar atrophy | 62.5% | 5/8 |
| Abnormal cortical gyration | 12.5% | 1/8 |
| Abnormal length of corpus callosum | 12.5% | 1/8 |
| Abnormality of the cerebellar vermis | 12.5% | 1/8 |
| Aplasia/Hypoplasia of the corpus callosum | 12.5% | 1/8 |
| Dilated third ventricle | 12.5% | 1/8 |
| Hypoplasia of the corpus callosum | 12.5% | 1/8 |
| Small posterior fossa | 12.5% | 1/8 |
| Widened posterior fossa | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 14.3% | 1/7 |
| Abnormality of the eyebrow | 14.3% | 1/7 |
| Almond-shaped palpebral fissure | 14.3% | 1/7 |
| Bilateral ptosis | 14.3% | 1/7 |
| Low-set, posteriorly rotated ears | 14.3% | 1/7 |
| Abnormality of the eye | 37.5% | 3/8 |
| Abnormality of retinal pigmentation | 12.5% | 1/8 |
| Almond-shaped palpebral fissure | 12.5% | 1/8 |
| Blepharophimosis | 12.5% | 1/8 |
| Horizontal eyebrow | 12.5% | 1/8 |
| Long eyelashes | 12.5% | 1/8 |
| Upslanted palpebral fissure | 12.5% | 1/8 |
| Abnormality of the nose | 12.5% | 1/8 |
| Abnormality of the nasal bridge | 12.5% | 1/8 |
| Abnormality of the mouth | 28.6% | 2/7 |
| Biparietal narrowing | 14.3% | 1/7 |
| High palate | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 14.3% | 1/7 |
| Cortical visual impairment | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 16.7% | 1/6 |
| Dysphagia | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 2/6 |
| Lumbar scoliosis | 16.7% | 1/6 |
| Thoracic scoliosis | 16.7% | 1/6 |